The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
J Med Screen. 2011;18(4):169-72. doi: 10.1258/jms.2011.011044. Epub 2011 Dec 7.
To assess the frequency of the D1152H mutation in the CFTR gene in normal individuals, in cystic fibrosis (CF) patients and in the setting of prenatal diagnosis.
A database analysis of sequential screening results seen at the Sheba Medical Center, Israel, between 2001 and 2010.
We retrospectively analyzed the frequency of D1152H in a large cohort of healthy individuals who were screened as part of a routine prenatal care programme, in individuals referred due to CF-related symptoms and in the setting of prenatal diagnosis.
We found one asymptomatic homozygous female and 195 D1152H carriers among 49,940 healthy individuals screened, establishing a carrier rate of 1:255 for this mutation. We detected D1152H in nine of 103 individuals referred due to CF-related symptoms. Four suffered from respiratory symptoms and five from congenital bilateral absence of the vas deferens (CBAVD). During this period D1152H was detected in three pregnancies, two of which were aborted.
The increased frequency of D1152H in individuals referred due to CF-related symptoms compared with healthy individuals included in the CF carrier screening programme (P < 0.001) clearly indicates that it is a disease-causing mutation.
评估 CFTR 基因 D1152H 突变在正常个体、囊性纤维化（CF）患者和产前诊断中的频率。
对以色列谢巴医疗中心 2001 年至 2010 年连续筛查结果的数据库进行分析。
我们回顾性分析了在常规产前保健计划中筛查的大量健康个体、因 CF 相关症状而转诊的个体以及产前诊断中 D1152H 的频率。
我们在 49940 名筛查的健康个体中发现了 1 名无症状纯合女性和 195 名 D1152H 携带者，该突变的携带者频率为 1:255。我们在 103 名因 CF 相关症状而转诊的个体中检测到了 D1152H。其中 4 人有呼吸道症状，5 人有先天性双侧输精管缺如（CBAVD）。在此期间，在 3 例妊娠中检测到 D1152H，其中 2 例流产。
与包括在 CF 携带者筛查计划中的健康个体相比，因 CF 相关症状而转诊的个体中 D1152H 的频率增加（P < 0.001），这清楚地表明它是一种致病突变。
